Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP6V1FNB_chr7_128861330_128877047	128867881	T T	TAAATCCA others(42): Show TAAATCCATGAGATCTCCTAGGCACCGGCTGGCCTAATAGGTGCTATTTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0030 a0001c0010t0021g0030	1	442	0.0023	49	c.422 others(64): Show c.422-764_422-763insCACCGGCTGGCCTAATAGGTGCTATTTAAA ATCCATGAGATCTCCTAGG		ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	298	0.0034	49	c.119 others(66): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0008 a0004c0011t0008	a0004c0011t0008g0168 a0004c0011t0008g0168	1	220	0.0046	49	c.346 others(66): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATATATATATATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN2L_chr16_28817999_28842232	28835078	T T	TCAGAGCA others(42): Show TCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCATCCCCAGGCCATCG	frameshift_variant frameshift_variant	HIGH	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0007 a0007c0017t0007	a0007c0017t0007g0091 a0007c0017t0007g0091	1	382	0.0026	49	c.245 others(58): Show c.2455_2503dupCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCAT CCCCAGGCCATCG	p.Val others(5): Show p.Val835fs	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	19/22	2765/4456	2504/3228	835/1075		INFO_REALIGN_3_PRIME	chr16	TogoVar
AUTS2_chr7_69593475_70798506	70003420	T T	TTATATAT others(42): Show TTATATATGAATATGTTATATATGAATATGTTATATATGAATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(14): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033	a0001c0001t0001g0026 a0001c0001t0005g0005 a0001c0001t0005g0012 others(14): Show a0001c0001t0001g0026 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014	17	76	0.2237	49	c.522 others(70): Show c.522+103950_522+103951insGTTATATATGAATATATATAATAT ATATGAATATGTTATATATGAATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179418661	T T	TGGGGGGC others(42): Show TGGGGGGCCGACACCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03453.hp1 HG01891.hp1 HG02280.hp1 HG03453.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0204 a0012c0017t0001g0205 a0012c0017t0001g0296 a0012c0017t0001g0204 a0012c0017t0001g0205 a0012c0017t0001g0296	3	356	0.0084	49	c.123 others(68): Show c.1230+7403_1230+7451dupCGACACCACCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGC		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0240	1	268	0.0037	49	c.-38 others(60): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B4GALNT2_chr17_49127769_49181840	49150165	T T	TGCCTAGC others(42): Show TGCCTAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0117 a0001c0004t0050g0117	1	380	0.0026	49	c.354 others(66): Show c.354-2634_354-2633insCCTAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150167	T T	TCCGGCCA others(42): Show TCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG04228.hp1 HG02735.hp1 HG03654.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0073 a0001c0001t0002g0149 a0002c0002t0004g0195 a0001c0001t0002g0073 a0001c0001t0002g0149 a0002c0002t0004g0195	3	380	0.0079	49	c.354 others(66): Show c.354-2565_354-2517dupCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTC		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT2_chr17_49127769_49181840	49150215	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGCGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(73): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG03041.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0040 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0002c0002t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0341 a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0242 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0022g0018 a0001c0001t0040g0047 a0001c0001t0041g0188 a0001c0001t0046g0090 a0001c0001t0048g0176 a0002c0002t0004g0129	76	380	0.2000	49	c.354 others(66): Show c.354-2550_354-2549insCGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGG		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
B4GALNT3_chr12_454939_568509	545868	T T	TAAGAGGA others(42): Show TAAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGAGAGGAGTGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0003 a0006c0045t0003	a0006c0045t0003g0392 a0006c0045t0003g0392	1	394	0.0025	49	c.639 others(64): Show c.639+399_639+400insAAGAGGAATGGGGAGGAGCGAGGAGTGGGG AGGAGAGAGGAGTGGGGAG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19						chr12	TogoVar
B4GALNT4_chr11_364499_387117	369395	G G	GCCCCGCC others(42): Show GCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCGCGCCCCGCCCCGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(57): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18952.hp2 NA18966.hp1 NA19007.hp1 NA19012.hp1 NA19064.hp2 NA19081.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0014 a0021 a0022 a0023	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0007 a0002c0030 a0003c0012 a0003c0039 a0004c0006 a0005c0009 a0006c0010 a0014c0024 a0021c0031 a0022c0019 a0023c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0030t0001 a0003c0012t0002 a0003c0039t0001 a0004c0006t0001 a0005c0009t0001 a0006c0010t0001 a0014c0024t0001 a0021c0031t0001 a0022c0019t0001 a0023c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0002g0100 a0001c0001t0004g0013 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0003t0001g0073 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0003g0015 a0001c0005t0002g0081 a0001c0005t0002g0082 a0001c0005t0002g0083 a0001c0005t0002g0085 a0001c0005t0002g0101 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0112 a0002c0002t0001g0179 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0113 a0002c0004t0002g0128 a0002c0004t0002g0129 a0002c0007t0001g0054 a0002c0007t0001g0058 a0002c0030t0001g0120 a0003c0012t0002g0109 a0003c0039t0001g0025 a0004c0006t0001g0088 a0005c0009t0001g0131 a0006c0010t0001g0043 a0006c0010t0001g0044 a0014c0024t0001g0012 a0021c0031t0001g0059 a0022c0019t0001g0066 a0023c0025t0001g0110	60	184	0.3261	49	c.-40 others(58): Show c.-409_-408insCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCGCGCC CCGCCCCGCCTCC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					103		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369415	G G	GCCCCGCA others(42): Show GCCCCGCACCCCGCGCCCCGCCCCGCCTCCCCCCGCCCCGCCTTCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	184	0.0054	49	c.-38 others(58): Show c.-389_-388insCCCCGCACCCCGCGCCCCGCCCCGCCTCCCCCCGCC CCGCCTTCCGCGC		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					83		chr11	TogoVar
B4GALNT4_chr11_364499_387117	374718	A A	AAGGGAGG others(42): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19012.hp1 HG02080.hp2 NA19012.hp1	a0001 a0022 a0001 a0022	a0001c0003 a0022c0019 a0001c0003 a0022c0019	a0001c0003t0001 a0022c0019t0001 a0001c0003t0001 a0022c0019t0001	a0001c0003t0001g0176 a0022c0019t0001g0066 a0001c0003t0001g0176 a0022c0019t0001g0066	2	184	0.0109	49	c.784 others(64): Show c.784-717_784-716insGGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374775	A A	AGGAAGGG others(42): Show AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG00323.hp2 HG01070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0081 a0001c0005t0002g0101 a0001c0005t0002g0081 a0001c0005t0002g0101	2	184	0.0109	49	c.784 others(64): Show c.784-672_784-671insGAGGAGGAAGGGAGGGAGGGGGAAGGGAGG GAGGGGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374789	G G	GGGGAAGG others(42): Show GGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0144 a0002c0033t0001g0144	1	184	0.0054	49	c.784 others(64): Show c.784-672_784-671insGGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19						chr11	TogoVar
BAG3_chr10_119646380_119682819	119675879	C C	CTTCCTTC others(42): Show CTTCCTTCCTCCTTCCTTCTTCCCCTTCCCCTTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0064 a0002c0003t0007g0064	1	420	0.0024	49	c.910 others(64): Show c.910-585_910-584insTTCCTTCCTCCTTCCTTCTTCCCCTTCCCC TTCCCTTCCTTCCTTCCTT		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3						chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81432547	A A	AGGCCCAC others(42): Show AGGCCCACCCTCCCTCCCATCGCCGGGCCCCACCCTCCCTCCCATCGCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0026 a0001c0103t0026	a0001c0103t0026g0245 a0001c0103t0026g0245	1	332	0.0030	49	c.358 others(66): Show c.358+5597_358+5598insCACCCTCCCTCCCATCGCCGGGCCCACC CTCCCTCCCATCGCCGGGCCC		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432833	C C	CCCTCCCC others(42): Show CCCTCCCCCCCCATCCCCAGGCCCACCCTTCCCCCCATCCCCAGGCCCAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0001 a0046 a0001 a0046	a0001c0012 a0046c0058 a0001c0012 a0046c0058	a0001c0012t0002 a0046c0058t0017 a0001c0012t0002 a0046c0058t0017	a0001c0012t0002g0112 a0046c0058t0017g0191 a0001c0012t0002g0112 a0046c0058t0017g0191	2	332	0.0060	49	c.359 others(66): Show c.359-5492_359-5444dupCCCAACCTCCCCCCCCATCCCCAGGCCC ACCCTTCCCCCCATCCCCAGG		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS5_chr2_169474494_169511655	169505934	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0020 a0001c0004t0019g0020	3	398	0.0075	49	c.13 others(60): Show c.1377_*1425dupGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGG		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12				1426	INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS5_chr2_169474494_169511655	169506118	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0020 a0001c0004t0019g0020	3	398	0.0075	49	c.15 others(60): Show c.1579_*1580insCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCC		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12				1580	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCAP29_chr7_107575246_107625478	107591657	C C	CACACACA others(42): Show CACACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	398	0.0025	49	c.194 others(66): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACACA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7						chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599052	A A	AATATATT others(42): Show AATATATTTATAAATATATAAATATATTAAAAATTTATATGTATATAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0363 a0001c0001t0005g0363	1	398	0.0025	49	c.481 others(66): Show c.481-1264_481-1216dupATTTATATGTATATAAATATATATTTAT AAATATATAAATATATTAAAA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599162	A A	AGTATATA others(42): Show AGTATATAAATATATATTTATAAATATATAAATATATTAAAAATTTATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0327 a0001c0001t0007g0327	1	398	0.0025	49	c.481 others(66): Show c.481-1235_481-1234insGTATATAAATATATATTTATAAATATAT AAATATATTAAAAATTTATAT		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7						chr7	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0055 a0004c0009t0001g0055	1	74	0.0135	49	c.202 others(68): Show c.2029+3574_2029+3575insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24837146	A A	AAGGAAGA others(42): Show AAGGAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp1 others(4): Show HG00140.hp2 HG01069.hp2 HG01071.hp1 HG01515.hp2 HG02572.hp1 HG02615.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0076 others(3): Show a0001c0001t0012 a0001c0001t0033 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0085	a0001c0001t0012g0055 a0001c0001t0033g0243 a0001c0001t0033g0272 others(4): Show a0001c0001t0012g0055 a0001c0001t0033g0243 a0001c0001t0033g0272 a0001c0001t0076g0031 a0001c0001t0077g0002 a0001c0001t0083g0058 a0001c0001t0085g0154	7	322	0.0217	49	c.818 others(64): Show c.818-551_818-550insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTCTTTCTTCCT		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10						chr12	TogoVar
BCL11B_chr14_99164287_99277197	99210887	A A	AAGACACC others(42): Show AAGACACCTTCCCCTCTACCAACGATGACAATGATCCTAATAAGATCAAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	350	0.0029	49	c.640 others(68): Show c.640+20409_640+20457dupATTGATCTTATTAGGATCATTGTCAT CGTTGGTAGAGGGGAAGGTGTCT		BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3						chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0098 a0004c0004t0003g0098	1	458	0.0022	49	c.-43 others(60): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(42): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	458	0.0022	49	c.-43 others(60): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117103	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATATATATATATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	458	0.0022	49	c.-43 others(60): Show c.-4378_-4377insTATATAAATATATATATATATATATATATATATA TATATATATATATAT		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4329		chr15	TogoVar
BDP1_chr5_71450651_71572820	71551893	A A	AGGCGGGG others(42): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 homoSapiens_chm13v2.hp1 HG00642.hp1 homoSapiens_chm13v2.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0014 a0010c0011t0001 a0010c0011t0014	a0010c0011t0001g0173 a0010c0011t0014g0147 a0010c0011t0001g0173 a0010c0011t0014g0147	2	325	0.0062	49	c.699 others(68): Show c.6996-1174_6996-1126dupGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	34/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BET1L_chr11_197924_212399	209428	T T	TCCCCCTC others(42): Show TCCCCCTCCAGTCACATGATCCACAAGGGCCACATCTTGCCTACCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	402	0.0025	49	c.-21 others(60): Show c.-2108_-2107insTGGAGGGTAGGCAAGATGTGGCCCTTGTGGATCA TGTGACTGGAGGGGG		BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding					2030		chr11	TogoVar
BFSP2_chr3_133395056_133480208	133414717	A A	ATCCCCTC others(42): Show ATCCCCTCTACTTACCCCTGCCCCCCTCCACTCTACTCACCCCTGCCATC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	276	0.0036	49	c.489 others(68): Show c.489+14166_489+14167insCCCCTCCACTCTACTCACCCCTGCCA TCTCCCCTCTACTTACCCCTGCC		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC6_chr2_32352023_32623878	32461144	T T	TCTCCTCC others(42): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0188 a0006c0026t0001g0188	1	274	0.0037	49	c.475 others(68): Show c.4754-2049_4754-2048insTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCCCTCCC		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BLZF1_chr1_169363195_169393305	169391683	T T	TCTAAGGA others(42): Show TCTAAGGATGTAAGTGATTAACTTCTTTTAATCTATAACTAAGGTCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	366	0.0027	49	c.45 others(60): Show c.4501_*4502insCTAAGGATGTAAGTGATTAACTTCTTTTAATCTA TAACTAAGGTCTGAG		BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding					3379		chr1	TogoVar
BMPR2_chr2_202371327_202572749	202534994	G G	GCCACCTC others(42): Show GCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(134): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18994.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19070.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0003 a0003c0008 others(2): Show a0001c0001 a0002c0003 a0003c0008 a0004c0007 a0006c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0002c0003t0001 a0003c0008t0003 a0004c0007t0001 a0006c0004t0037	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0004g0161 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0007g0096 a0001c0001t0007g0102 a0001c0001t0007g0121 a0001c0001t0007g0189 a0001c0001t0008g0202 a0001c0001t0008g0203 a0001c0001t0008g0204 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0009g0215 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0221 a0001c0001t0014g0033 a0001c0001t0014g0142 a0001c0001t0014g0144 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0016g0171 a0001c0001t0016g0173 a0001c0001t0017g0090 a0001c0001t0017g0122 a0001c0001t0020g0108 a0001c0001t0021g0138 a0001c0001t0024g0072 a0001c0001t0025g0178 a0001c0001t0026g0106 a0001c0001t0027g0140 a0001c0001t0028g0003 a0001c0001t0029g0105 a0001c0001t0030g0163 a0001c0001t0031g0120 a0001c0001t0032g0182 a0001c0001t0033g0199 a0001c0001t0034g0216 a0001c0001t0035g0174 a0001c0001t0038g0136 a0001c0001t0039g0137 a0001c0001t0040g0188 a0001c0001t0041g0143 a0001c0001t0042g0191 a0001c0001t0043g0167 a0001c0001t0047g0133 a0001c0001t0048g0013 a0001c0001t0049g0016 a0001c0001t0050g0017 a0001c0001t0052g0145 a0002c0003t0001g0004 a0002c0003t0001g0006 a0003c0008t0003g0030 a0004c0007t0001g0112 a0006c0004t0037g0135	137	224	0.6116	49	c.127 others(68): Show c.1276+2282_1276+2283insGCGGCTGGCCGGGCGGGTGGCTGACC CCCCCACCTCCCTCCCGGACGGG		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202535007	C C	CGGACGGG others(42): Show CGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0032 a0001c0001t0045g0032	1	224	0.0045	49	c.127 others(68): Show c.1276+2282_1276+2283insGCGGCTGGCCGGGCGGGTGGCTGACC CCCCCACCTCCCTCCGGGACGGG		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BOC_chr3_113206557_113292459	113260667	T T	TAGAACAG others(42): Show TAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAAGAAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0027 a0001c0009t0027	a0001c0009t0027g0250 a0001c0009t0027g0250	1	386	0.0026	49	c.377 others(66): Show c.377-7588_377-7587insAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAA		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260667	T T	TAGAACAG others(42): Show TAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA20752.hp1 HG02809.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0001 a0002c0004t0029 a0001c0009t0001 a0002c0004t0029	a0001c0009t0001g0244 a0002c0004t0029g0374 a0001c0009t0001g0244 a0002c0004t0029g0374	2	386	0.0052	49	c.377 others(66): Show c.377-7631_377-7583dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAA		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241571306	C C	CAGTTGCC others(42): Show CAGTTGCCGCTGGGCCCTGGGTGCTGGGCCCTGGGTGTGGACCGCAGTTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03688.hp2 HG01192.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0098 a0001c0001t0004g0075 a0001c0001t0004g0098	2	434	0.0046	49	c.514 others(64): Show c.514-991_514-990insAGTTGCCGCTGGGCCCTGGGTGCTGGGCCC TGGGTGTGGACCGCAGTTG		BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4						chr2	TogoVar
BORCS6_chr17_8183345_8195180	8191842	G G	GGAGTCCA others(42): Show GGAGTCCAGCCAACCCTAATGATAGTAGCTCAATCTTTCACCACGCCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	49	c.-17 others(60): Show c.-1703_-1702insTCAGGCGTGGTGAAAGATTGAGCTACTATCATTA GGGTTGGCTGGACTC		BORCS6	ENSG00000196544.8	transcript	ENST00000389017.6	protein_coding					1663		chr17	TogoVar
BPIFB4_chr20_33074643_33116751	33115816	T T	TGCCCCGT others(42): Show TGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0034 a0013c0013t0001g0034	1	344	0.0029	49	c.43 others(60): Show c.4379_*4380insGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCACCCGGCCAGCC		BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding					4066		chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424684	T T	TTCTCCTC others(42): Show TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	422	0.0024	49	c.121 others(68): Show c.1218-5281_1218-5280insGAAGAAGAAGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	274	0.0037	49	c.530 others(68): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT		BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAT1_chr7_2532810_2560524	2534088	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0110 a0001c0015t0001g0111 a0001c0015t0001g0110 a0001c0015t0001g0111	2	424	0.0047	49	c.39 others(60): Show c.3980_*3981insGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGG		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding					3721		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534088	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01069.hp2 others(19): Show HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02300.hp2 HG03831.hp1 NA18747.hp1 homoSapiens_chm13v2.hp1	a0003 a0011 a0003 a0011	a0003c0005 a0003c0020 a0011c0019 a0003c0005 a0003c0020 a0011c0019	a0003c0005t0002 a0003c0020t0002 a0011c0019t0002 a0003c0005t0002 a0003c0020t0002 a0011c0019t0002	a0003c0005t0002g0007 a0003c0005t0002g0038 a0003c0005t0002g0039 others(18): Show a0003c0005t0002g0007 a0003c0005t0002g0038 a0003c0005t0002g0039 a0003c0005t0002g0040 a0003c0005t0002g0041 a0003c0005t0002g0042 a0003c0005t0002g0043 a0003c0005t0002g0044 a0003c0005t0002g0046 a0003c0005t0002g0047 a0003c0005t0002g0048 a0003c0005t0002g0050 a0003c0005t0002g0051 a0003c0005t0002g0053 a0003c0005t0002g0056 a0003c0005t0002g0057 a0003c0005t0002g0058 a0003c0005t0002g0060 a0003c0005t0002g0109 a0003c0020t0002g0032 a0011c0019t0002g0054	22	424	0.0519	49	c.39 others(60): Show c.3980_*3981insGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGG		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding					3721		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534388	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0110 a0001c0015t0001g0111 a0001c0015t0001g0110 a0001c0015t0001g0111	2	424	0.0047	49	c.36 others(60): Show c.3680_*3681insGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGG		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding					3421		chr7	TogoVar
BRMS1L_chr14_35821338_35876963	35824605	A A	AGAAGGGG others(42): Show AGAAGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	374	0.0027	49	c.-19 others(60): Show c.-1912_-1911insGAAGGGGCGGCTGGCCGGGCGGGGCGCTGACCCC CCCACCTCCCTCCCG		BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding					1732		chr14	TogoVar
BROX_chr1_222707564_222740187	222737207	A A	ACTTAAAG others(42): Show ACTTAAAGGGTCAGAATGTTAAATACTGGTCCAGCTACGTGTAAGCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	386	0.0026	49	c.44 others(60): Show c.4493_*4494insCTTAAAGGGTCAGAATGTTAAATACTGGTCCAGC TACGTGTAAGCATCT		BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding					2021		chr1	TogoVar
BRSK2_chr11_1384934_1467689	1430116	C C	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG02165.hp1 others(3): Show HG00673.hp2 HG01243.hp1 HG02165.hp1 HG02559.hp2 HG03516.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0002t0008 a0002c0002t0010	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0004g0051 others(3): Show a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0004g0051 a0001c0001t0006g0226 a0002c0002t0008g0071 a0002c0002t0010g0233	6	360	0.0167	49	c.92- others(64): Show c.92-5898_92-5897insTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

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